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Mutations in the Caenorhabditis elegans orthologs of human genes required for mitochondrial tRNA modification cause similar electron transport chain defects but different nuclear responses

Several oxidative phosphorylation (OXPHOS) diseases are caused by defects in the post-transcriptional modification of mitochondrial tRNAs (mt-tRNAs). Mutations in MTO1 or GTPBP3 impair the modification of the wobble uridine at position 5 of the pyrimidine ring and cause heart failure. Mutations in T...

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Detalles Bibliográficos
Autores principales: Navarro-González, Carmen, Moukadiri, Ismaïl, Villarroya, Magda, López-Pascual, Ernesto, Tuck, Simon, Armengod, M.-Eugenia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5544249/
https://www.ncbi.nlm.nih.gov/pubmed/28732077
http://dx.doi.org/10.1371/journal.pgen.1006921